title: The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.
abstract: BACKGROUND
  Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia.
  
  
  METHODS
  In this study, 1,446 Caucasian subjects with mainly adult-onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5'-untranslated region of THAP1 (c.-237_236GA>TT).
  
  
  RESULTS
  Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein.
  
  
  CONCLUSIONS
  Our findings indicate that the c.-237_236GA>TT THAP1 sequence variant does not increase risk for adult-onset primary dystonia in Caucasians.
authors.affiliation: Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Xiao
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhao
authors.forename: Robert W
authors.initials: RW
authors.lastname: Bastian
authors.forename: Joel S
authors.initials: JS
authors.lastname: Perlmutter
authors.forename: Brad A
authors.initials: BA
authors.lastname: Racette
authors.forename: Samer D
authors.initials: SD
authors.lastname: Tabbal
authors.forename: Morvarid
authors.initials: M
authors.lastname: Karimi
authors.forename: Randal C
authors.initials: RC
authors.lastname: Paniello
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Uitti
authors.forename: Jay A
authors.initials: JA
authors.lastname: Van Gerpen
authors.forename: David K
authors.initials: DK
authors.lastname: Simon
authors.forename: Daniel
authors.initials: D
authors.lastname: Tarsy
authors.forename: Peter
authors.initials: P
authors.lastname: Hedera
authors.forename: Daniel D
authors.initials: DD
authors.lastname: Truong
authors.forename: Karen P
authors.initials: KP
authors.lastname: Frei
authors.forename: Andrew
authors.initials: A
authors.lastname: Blitzer
authors.forename: Monika
authors.initials: M
authors.lastname: Rudzińska
authors.forename: Ronald F
authors.initials: RF
authors.lastname: Pfeiffer
authors.forename: Carrie
authors.initials: C
authors.lastname: Le
authors.forename: Mark S
authors.initials: MS
authors.lastname: LeDoux
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D020821:Dystonic Disorders / Q000209:etiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D020506:Untranslated Regions / Q000235:genetics; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C474080:THAP1 protein, human; D020506:Untranslated Regions